This study analyzes the general disease characteristics, impact of enzyme replacement therapy (ERT), and overall survival (OS) of 156 Egyptian patients with Gaucher disease (GD) enrolled on hormone replacement from 1998 to 2017. The mean age at diagnosis was 32.46±12.68 months. Anemia was noted at diagnosis in 50%, thrombocytopenia in 30.7%, severe splenomegaly in 58.7%, severe hepatomegaly in 11.9%, and skeletal findings were detected in 24.3% of the patients. The most prevalent GD type was type 3 (54.5%). Twenty-two of type 3 patients had no neurological manifestations at diagnosis, and 12 developed variable central nervous system manifestations during follow-up. The most common neurological features were limited eye movements, oculomotor apraxia, and squint. Of the 60 patients for whom genotypes were obtained, homozygous L444P was the most common (n=35/60, 58.3%). Treatment with ERT (imiglucerase) revealed significant improvements in blood indices, organ volumes, and growth parameters (P<0.05). Ten (11.7%) type 3 patients did not develop any neurological manifestations under ERT over 20 years. Mortality was 16%, and the 20-year OS was 73.3%. We conclude that in Egypt, type 3 is the most prevalent phenotype of GD, and homozygous L444P is the predominant GBA genotype of GD. Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an OS of 73.3%.

本研究分析了一般疾病特征、酶替代疗法 (ERT) 的影响和总生存期(OS) 156 名埃及戈谢病 (GD) 患者从 1998 年到 2017 年参加激素替代治疗。诊断时的平均年龄为 32.46±12.68 个月。50% 的患者在诊断时发现贫血，30.7% 的患者出现血小板减少症，58.7% 的患者出现严重的脾肿大，11.9% 的患者出现严重的肝肿大，24.3% 的患者出现骨骼异常。最普遍的 GD 类型是 3 型（54.5%）。22 名 3 型患者在诊断时没有神经系统表现，12 名在随访期间出现不同的中枢神经系统表现。最常见的神经学特征是眼球运动受限、动眼神经失用和斜视。在获得基因型的 60 名患者中，纯合子 L444P 是最常见的（n=35/60，58.3%）。ERT（伊米苷酶）治疗显示血液指数、器官体积、P <0.05）。10 名 (11.7%) 3 型患者在 20 年内在 ERT 下未出现任何神经系统表现。死亡率为 16%，20 年 OS 为 73.3%。我们得出结论，在埃及，3 型是 GD 最普遍的表型，纯合 L444P 是 GD 的主要 GBA 基因型。ERT 诊断和治疗的早期年龄超过 20 岁显示疾病表现显着改善，OS 为 73.3%。